Familial LCAT deficiency: from renal replacement to enzyme replacement

R M Stoekenbroek; M A van den Bergh Weerman; G K Hovingh; B J Potter van Loon; C E H Siegert; A G Holleboom

Familial LCAT deficiency: from renal replacement to enzyme replacement

Neth J Med. 2013 Jan;71(1):29-31.

Authors

R M Stoekenbroek¹, M A van den Bergh Weerman, G K Hovingh, B J Potter van Loon, C E H Siegert, A G Holleboom

Affiliation

¹ Department of Vascular Medicine, Academic Medical Center, Amsterdam, the Netherlands.

PMID: 23412821

Abstract

Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Disease Progression
Enzyme Replacement Therapy / trends
Humans
Kidney Failure, Chronic / etiology*
Kidney Failure, Chronic / therapy
Lecithin Cholesterol Acyltransferase Deficiency / complications
Lecithin Cholesterol Acyltransferase Deficiency / genetics*
Male
Middle Aged
Pedigree
Renal Replacement Therapy